scholarly journals A Case of a 22-year-Old Man with Primary Synovial Sarcoma of the Parapharyngeal Space with an AR Somatic Mutation: A Clinicopathologic Study and Literature Review

Author(s):  
He Jiang ◽  
Ge Ma ◽  
Zunzhen Nie ◽  
Jin Zhu ◽  
Qingguo Yan ◽  
...  

Abstract Background: Synovial sarcoma (SS) is a rare and aggressive entity that occurs predominantly in young adults. SS can arise in almost any part of the body, especially in the extremities. The incidence of SS in the parapharyngeal space is, however, quite low. Case presentation: Herein, we describe a case of a biphasic SS in the parapharyngeal space. A 22-year-old man presented with a pharyngeal foreign body sensation and underwent excision of the mass with a clear margin. Pathological examinations of the tumour specimen revealed a 1.7×1.5×1.2 cm spherical, well-circumscribed mass arising from the left side of the postpharyngeal wall. Histological examination showed a biphasic pattern of epithelioid and spindle cells, including glandular differentiation. Immunophenotype: Immunohistochemically, the tumour cells were positive for vimentin, and the spindle cells were positive for bcl-2; in contrast, the epithelioid tumour cells were positive for cytokeratin (CK) and epithelial membrane antigen (EMA) and weakly positive for CD99. The tumour cells were scattered positive for SMA. Thyroid transcription factor 1 (TTF-1), thyroglobulin (TG), p63, WT-1 and S100 were negative, and the proliferative index (Ki-67) was found in approximately 70% of the tumour cells. Then, the presence of the SYT-SSX gene fusion was demonstrated by fluorescence in situ hybridization (FISH). In addition, androgen receptor (AR) gene somatic mutations were detected by next-generation sequencing (NGS). Two months postoperatively, the patient had neither developed a recurrence nor received adjuvant radiotherapy and chemotherapy. Conclusions: Accurate diagnosis depends on morphological and immunohistochemical examination and a proper molecular analysis, and novel technologies can detect a wide variety of genetic alterations. The prognosis is relatively good in patients who undergo surgical resection with a clean margin.

2022 ◽  
Vol 10 ◽  
pp. 2050313X2110686
Author(s):  
He Jiang ◽  
Ge Ma ◽  
Zunzhen Nie ◽  
Jin Zhu ◽  
Qingguo Yan ◽  
...  

This case report describes a 22-year-old man with a pharyngeal foreign body sensation arising from the left side of the postpharyngeal wall. Histological examination showed a biphasic pattern of epithelioid and spindle cells including glandular differentiation. The tumour was positive for vimentin and SS18-SSX, and the spindle cells were positive for bcl-2; in contrast, the epithelioid tumour cells were positive for pan-cytokeratin, epithelial membrane antigen and CD99. There was no INI-loss in tumour cells. Then, the presence of the SYT-SSX gene fusion was demonstrated by fluorescence in situ hybridization. In addition, androgen receptor gene somatic mutations were detected by next-generation sequencing. However, 6 months postoperatively, the patient had neither developed a recurrence nor received adjuvant radiotherapy and chemotherapy. Accurate diagnosis depends on morphological and immunohistochemical examination and a proper molecular analysis, and novel technologies can detect a wide variety of genetic alterations. Although androgen receptor somatic mutations cannot provide addition treatment at present, surgical resection with a clean margin and follow-up is an appropriate approach.


2021 ◽  
Vol 43 (3) ◽  
pp. 2266-2275
Author(s):  
Vladislav Pavlov ◽  
Anastasiya Snezhkina ◽  
Dmitry Kalinin ◽  
Alexander Golovyuk ◽  
Anastasiya Kobelyatskaya ◽  
...  

Paragangliomas (PGLs) are rare neuroendocrine tumors that can develop from any paraganglion across the body. The carotid body is the most often location of PGLs in the head and neck region. Carotid PGLs (CPGLs) are characterized by predominantly non-aggressive behavior; however, all tumors have the potential to metastasize. To date, molecular mechanisms of paraganglioma progression remain elusive. We report a case of a 38-year-old woman with metastatic CPGL manifesting as a recurrent tumor with lymph node metastasis. The tumor was fast-growing and had a high Ki-67 proliferation index. Immunohistochemical (IHC) examination and whole-exome sequencing were performed for both recurrent tumor and metastasis. A germline pathogenic splice acceptor variant in the SDHB gene was found in the patient. Immunoreactivity of the SDHB subunit was weak diffuse in both samples, indicating deficiency of the succinate dehydrogenase. Moreover, the recurrent tumor exhibited loss of heterozygosity (LOH) at the SDHB locus, that is according to Knudson’s "two-hit" hypothesis of cancer causation. We also identified a rare somatic promotor mutation in the TERT gene associated with the tumor progression. Obtained results confirmed the indicative role of the germline SDHB mutation for metastatic CPGLs, as well as the potential prognostic value of the TERT promoter mutation.


2007 ◽  
Vol 86 (8) ◽  
pp. 502-505
Author(s):  
Quang T. Vo ◽  
Joseph A. Wolf ◽  
James W. Turner ◽  
Marina Murkis ◽  
Daisy Saw ◽  
...  

Solitary fibrous tumors are benign neoplasms of mesenchymal origin. They usually arise from the visceral or parietal pleura and peritoneum, although they have been found in many areas throughout the body. We report a case of solitary fibrous tumor of the parapharyngeal space. Microscopically, the tumor contained spindle cells with areas of marked hypercellularity without a definite pattern. Consistent with a benign lesion, there were few mitoses and no necrosis. The tumor cells stained strongly positive for CD34 and vimentin. At the 2-year follow-up, the patient was well and free of local and/or distant disease.


Author(s):  
Felicity Amaya Schaeffer

I argue that we are entering an automated era of border control that I label a border-biosecurity industrial complex. Funded in great part by the Department of Homeland Security (DHS), scientific research and automated surveillance technologies promise the state innovative and supposedly unbiased solutions to the challenge of border control and security. This article spotlights a border surveillance technology called AVATAR (Automated Virtual Agent for Truth Assessment in Real-Time). Analyzing this technology, which was funded by the DHS and developed by faculty at the University of Arizona’s National Center for Border Security and Immigration (BORDERS), allows me to assess how the emphasis on novel technologies to detect terrorists unleashes the search for ubiquitous surveillance devices programmed to detect deviant behavioral and physiological movements. I offer a wider view of this technology-in-the-making by analyzing how university research in aerial defense, the psychology of deception, the life sciences, and computer engineering influences the development of surveillance devices and techniques. I explore how, during a posthuman era, automated technologies detect and racialize “suspect life” under the guise of scientific neutrality and supposedly free from human interference. Suspect life refers to the racial bias preprogrammed into algorithms that compute danger or risk into certain human movements and regions such as border zones. As these technologies turn the body into matter, they present biological life as a more scientifically verifiable truth than human verbal testimony, moving border control from the adjudication of law through the subjective interview to the automated body that speaks a truth more powerful than a complex story can tell.


2018 ◽  
Vol 8 (4) ◽  
pp. 28-33
Author(s):  
Mao Nguyen Van ◽  
Thao Le Thi Thu

Background: In practice it was difficult or impossible to have a correct diagnosis for the lymphoid proliferation lesions based on only H.E standard histopathology. In addition to histopathology, the application of immunohistochemistry was indispensable for the definitive diagnosis of the malignant or benign tumours and the origin of the tumour cells as well. Objectives: 1. To describe the gross and microscopic features of the suspected lesions of lymphoma; 2. To asses the expression of some immunologic markers for the diagnosis and classification of the suspected lesions of lymphoma. Materials and Method: Cross-sectional research on 81 patients diagnosed by histopathology as lymphomas or suspected lesions of lymphoma, following with immunohistopathology staining of 6 main markers including LCA, CD3, CD20, Bcl2, CD30 and AE1/3. Results: The most site was lymph node 58.1% which appeared at cervical region 72.3%, then the stomach 14.9% and small intestine 12.4%. The other sites in the body were met with lower frequency. Histopathologically, the most type of the lesions was atypical hyperplasia of the lymphoid tissue suspecting the lymphomas 49.4%, lymphomas 34.5%, the other diagnoses were lower including inflammation, poor differentiation carcinoam not excluding the lymphomas, lymphomas differentiating with poor differentiation carcinomas. Immunohistochemistry showed that, LCA, CD3, CD20, Bcl2, CD30 and AE1/3 were all positive depending on such type of tumours. The real lymphomas were 48/81 cases (59.3%), benign ones 35.8% and poor differentiated carcinomas 4.9%. Conclusion: Immunohistochemistry with 6 markers could help to diagnose correctly as benign or malignant lesions, classify and determine the origin of the tumour cells as lymphocytes or epithelial cells diagnosed by histopathology as lymphomas or suspected lesions of lymphomas. Key words: histopathology, immunohistochemistry, lymphomas, poor differentiated carcinomas, hyperplasia, atypicality


2021 ◽  
pp. 106689692110313
Author(s):  
Alexander M. Strait ◽  
Julia A. Bridge ◽  
Anthony J. Iafrate ◽  
Marilyn M. Li ◽  
Feng Xu ◽  
...  

Myofibroblastoma is a rare, benign stromal tumor with a diverse morphologic spectrum. Mammary-type myofibroblastoma (MTMF) is the extra-mammary counterpart of this neoplasm and its occurrence throughout the body has become increasingly recognized. Similar morphologic variations of MTMF have now been described which mirror those seen in the breast. We describe a case of intra-abdominal MTMF composed of short fascicles of eosinophilic spindle cells admixed with mature adipose tissue. The spindle cells stained diffusely positive for CD34, desmin, smooth muscle actin, and h-caldesmon by immunohistochemistry. Concurrent loss of RB1 (13q14) and 13q34 loci were confirmed by fluorescence in situ hybridization whereas anchored multiplex PCR and whole transcriptome sequencing did not reveal any pathognomonic fusions suggesting an alternative diagnosis. To the best of our knowledge this is the first documented case of leiomyomatous variant of MTMF.


2010 ◽  
Vol 134 (2) ◽  
pp. 271-275 ◽  
Author(s):  
Qing Dong ◽  
Shuang Pan ◽  
Li-Sha Sun ◽  
Tie-Jun Li

Abstract Context.—Orthokeratinized odontogenic cyst (OOC) is a relatively uncommon developmental cyst comprising about 10% of cases that had been previously coded as odontogenic keratocysts. Odontogenic keratocyst was designated as keratocystic odontogenic tumor (KCOT) in the new World Health Organization classification and OOC should be distinguished from KCOT for differences in histologic features and biologic behavior. Objective.—To analyze the clinicopathologic features of 61 cases of OOC in a Chinese population. Design.—Clinicopathologic analysis was performed on 61 cases of OOC. Immunohistochemical expression of Ki-67 and p63 was evaluated in 15 OOCs and 15 typical KCOTs. Results.—The 61 patients with OOC ranged from 13 to 75 years (average, 38.93 years). The lesions developed mainly in the third and fourth decades (57.38%) with a distinct predilection for males (72.13%). Six (9.84%) lesions were found in the maxilla and 55 (90.16%) in the mandible. The most common sites were in the mandibular molar and ramus region. Of the 54 cases with radiographic record, 47 (87.04%) were unilocular and 7 (12.96%) were multilocular radiolucencies. Twenty-seven of the 54 cysts were associated with an impacted tooth. Follow-up of 42 patients revealed no recurrence during an average period of 76.8 months after surgery. Compared with KCOTs, expression level of Ki-67 and p63 was significantly lower in OOCs, suggesting a lower proliferative activity. Conclusion.—Orthokeratinized odontogenic cyst is clinicopathologically distinct from KCOT and should constitute its own clinical entity.


2018 ◽  
Vol 11 (3) ◽  
pp. 676-681 ◽  
Author(s):  
Kishore Kumar ◽  
Rafeeq Ahmed ◽  
Chime Chukwunonso ◽  
Hassan Tariq ◽  
Masooma Niazi ◽  
...  

Neuroendocrine cells are widespread throughout the body and can give rise of neuroendocrine tumors due to abnormal growth of the chromaffin cells. Neuroendocrine tumors divide into many subtypes based on tumor grade (Ki-67 index and mitotic count) and differentiation. These tumors can be further divided into secretory and nonsecretory types based on the production of peptide hormone by tumor cells. Poorly differentiated small-cell-type neuroendocrine tumors are one of the subtypes of neuroendocrine tumors. These tumors are less common; however, they tend to be locally invasive and aggressive in behavior with poor overall median survival. Treatment of the nonsecretory small-cell type is modeled to small-cell lung cancer with a regimen consisting of platinum-based chemotherapy and etoposide with variable response. Here, we present a case of poorly differentiated small-cell neuroendocrine tumor originating from the prostate.


2020 ◽  
Author(s):  
Boris Shorning ◽  
Neil Trent ◽  
David Griffiths ◽  
Thomas Worzfeld ◽  
Stefan Offermanns ◽  
...  

AbstractProstate cancer mortality is associated with the metastatic spread of tumour cells. A better understanding of the mechanisms which allow a locally advanced tumour to disseminate around the body will identify new therapeutic targets to block this process. One of set of genes implicated in metastasis are plexins, which can promote or suppress tumour progression depending on cancer type and cellular context. We have taken a mouse genetics approach to gain insight into the role of Plexin-B1 in prostate cancer progression in vivo.We show here that genetic deletion of Plexin-B1 in PbCre+Ptenfl/flKrasG12V and PbCre+Ptenfl/flp53fl/fl mouse prostate cancer models significantly decreased metastasis. High levels of prostate epithelial cell-specific expression of wild-type Plexin-B1 in knock-in mice with a PbCre+Ptenfl/flKrasG12V background also significantly decreased metastasis. In contrast, expression of a Plexin-B1 mutant (P1597L; identified from metastatic deposits in prostate cancer patients) in prostate epithelial cells in PbCre+Ptenfl/flKrasG12V and PbCre+Ptenfl/flp53fl/fl mice significantly increased metastasis, in particular metastasis to distant sites. In line with these findings, both deletion and overexpression of wild-type Plexin-B1 reduced invasion of tumour cells into the prostate stroma, while overexpression of mutant Plexin-B1 significantly increased invasion, suggesting that Plexin-B1 has a role in the initial stages of metastasis. Invasion and metastasis also correlated with phosphorylation of myosin light chain, suggesting that Plexin-B1 signals via the Rho/ROCK pathway to promote metastasis.Our results demonstrate that mutant Plexin-B1 promotes metastasis in prostate cancer and represents a new therapeutic target to suppress tumour spread.


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